Mutations in newly discovered Mendelian disease genes represent a significant portion of positive findings in diagnostic exome sequencing (DES)

Date:
Tuesday, Mar 25, 2014 12:00am – 12:00pm
Conference:
ACMG 2014
Authors:
Brigette Tippin, Cameron Mroske, Dima El-Khechen, Elizabeth Chao, Ira Lu, Kelly Farwell, Layla Shahmirzadi, Ruth Baxter, Sha Tang, Stephanie Gandomi, Wenqi Zeng, Xiang Li, Zöe Powis